Canonical Allele Identifier: CA2750403367
Gene: MCEE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71123947del , CM000664.2:g.71123947del GRCh38
NC_000002.11:g.71351077del , CM000664.1:g.71351077del GRCh37
NC_000002.10:g.71204585del NCBI36
NG_008977.1:g.11319del

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.378+260del MANE Select ENSP00000244217.5:n.378+260del
ENST00000244217.5:c.378+260del ENSP00000244217.5:n.378+260del
ENST00000413592.5:c.84+422del ENSP00000391140.1:n.84+422del
NM_032601.3:c.378+260del NP_115990.3:n.378+260del
XM_005264613.2:c.216+422del XP_005264670.1:n.216+422del
XR_939729.1:n.447+260del
XR_939729.2:n.447+260del
NM_032601.4:c.378+260del MANE Select NP_115990.3:n.378+260del